A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv481



Internal ID15198432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95208055..95218262hg38UCSC Ensembl
Outerchr5:94543759..94553966hg19UCSC Ensembl
Outerchr5:94569515..94579722hg18UCSC Ensembl
Outerchr5:94569515..94579722hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3817844
hg1917844
hg1817844
hg1717844
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4922
Supporting Variants
SamplesNA19240
Known GenesMCTP1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv481
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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